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Article

Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene.

Muscle & nerve - 1 Apr 2015

Ruggiero Lucia, Fiorillo Chiara, Tessa Alessandra, Manganelli Fiore, Iodice Rosa, Dubbioso Raffaele, Vitale Floriana, Storti Eugenia, Soscia Ernesto, Santorelli Filippo, Santoro Lucio

Abstract excerpt

INTRODUCTION: Mutations in the lamin A/C protein cause laminopathies, a heterogeneous group of disorders that include recessive axonal neuropathy (CMT2B1), Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), dilated cardiomyopathy with conduction defect, and different...

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Topics

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Share to LMNA gene
Share to Genetic Predisposition to Disease
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle Fibers, Skeletal

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Share to Myopathies, Structural, Congenital

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Source

Identifiers

PMID: 25256213
DOI: 10.1002/mus.24467

Genes

LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25256213-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene.PMID 25256213Read ↗

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Myofibrillar myopathy due to dominant LMNA mutations: A report of 2 cases.Semantic proximity Read ↗

Mutations in the LMNA gene encoding lamin A/C.Semantic proximity Read ↗

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